G187A (p.Gly187Ala) variant of CLN3 (Battenin)
G187A (p.Gly187Ala) in CLN3 (Battenin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Neuronal ceroid lipofuscinosis 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature.
G187A (p.Gly187Ala) variant details
- p.Gly187Ala
- rs386833730
- ClinGen CA263703
- ClinVar RCV000049693
- UniProt VAR 066893
- Likely pathogenic
- Neuronal ceroid lipofuscinosis 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.914
- AlphaMissense 0.85
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.79
- ClinVar: Likely pathogenic (Neuronal ceroid lipofuscinosis 3)
- EBI: Pathogenic (in CLN3)
- UniProt: Pathogenic (in CLN3)
- Cited in: Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the… (PMID 21990111)
- Cited in: Defective intracellular transport of CLN3 is the molecular basis of Batten disease (JNCL). (PMID 10332042)